Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

Lipoma

Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.


合計: 4

                       


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PMID (PMCID)
24379037
(3890226)
 MIXED_SAMPLE Child
Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A.
J Clin Res Pediatr Endocrinol. 2013;5(4):261-5.
Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps).
22673385
 FEMALE Infant
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl].
Vibede LD, Jensen UB, Sorensen TH, Pedersen LM.
Ugeskr Laeger. 2012;174(23):1614-5.
Bannayan-Riley-Ruvalcaba syndrome is a rare disease, which is characterized by macrocephaly, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and mental retardation.
17043057
 MIXED_SAMPLE Middle Aged
PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.
Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V.
Jpn J Clin Oncol. 2006;36(12):814-21.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant disorder characterized by macrocephaly, intestinal hamartomatous polyps, lipomas and pigmented macules of the glans penis.
16198785
 MALE Child
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome.
Erkek E, Hizel S, Sanly C, Erkek AB, Tombakoglu M, Bozdogan O, Ulkatan S, Akarsu C.
J Am Acad Dermatol. 2005;53(4):639-43.
We present a case of Bannayan-Riley-Ruvalcaba syndrome with macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy.